Glycogen Storage Disease Program and Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL 32610-0296, USA.
J Pediatr. 2011 Sep;159(3):442-6. doi: 10.1016/j.jpeds.2011.02.031. Epub 2011 Apr 9.
To characterize the natural history and factors related to hepatocellular adenoma (HCA) development in glycogen storage disease type Ia (GSD Ia).
Retrospective chart review was performed for 117 patients with GSD Ia. Kaplan-Meier analysis of HCA progression among two groups of patients with GSD Ia (5-year mean triglyceride concentration ≤ 500 mg/dL and >500 mg/dL); analysis of serum triglyceride concentration, body mass index SDS, and height SDS between cases at time of HCA diagnosis and age- and sex-matched control subjects.
Logrank analysis of Kaplan-Meier survival curve demonstrated a significant difference in progression to HCA between the 5-year mean triglyceride groups (P = .008). No significant difference was detected in progression to adenoma event between sexes. Serum triglyceride concentration was significantly different at time of diagnosis of adenoma (737 ± 422 mg/dL) compared with control subjects (335 ± 195 mg/dL) (P = .009). Differences in height SDS (P = .051) and body mass index SDS (P = .066) approached significance in our case-control analysis.
Metabolic control may be related to HCA formation in patients with GSD Ia. Optimizing metabolic control remains critical, and further studies are warranted to understand the pathogenesis of adenoma development.
描述糖原贮积病 Ia 型（GSD Ia）中肝细胞腺瘤（HCA）的自然史和相关因素。
对 117 例 GSD Ia 患者进行回顾性图表审查。对 GSD Ia 两组患者（5 年平均甘油三酯浓度≤500mg/dL 和>500mg/dL）中 HCA 进展的 Kaplan-Meier 分析；在 HCA 诊断时和年龄、性别匹配的对照组中，分析病例的血清甘油三酯浓度、体重指数 SDS 和身高 SDS。
Kaplan-Meier 生存曲线的对数秩分析显示，两组 5 年平均甘油三酯的 HCA 进展差异有统计学意义（P =.008）。性别之间腺瘤事件的进展无显著差异。与对照组相比，诊断为腺瘤时的血清甘油三酯浓度明显升高（737±422mg/dL 比 335±195mg/dL）（P =.009）。我们的病例对照分析中，身高 SDS（P =.051）和体重指数 SDS（P =.066）的差异有统计学意义。
代谢控制可能与 GSD Ia 患者的 HCA 形成有关。优化代谢控制仍然至关重要，需要进一步研究以了解腺瘤发展的发病机制。
